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Tytuł pozycji:

Causal inference in genetic trio studies.

Tytuł:
Causal inference in genetic trio studies.
Autorzy:
Bates S; Department of Statistics, Stanford University, Stanford, CA 94305; .
Sesia M; Department of Data Sciences and Operations, Marshall School of Business, University of Southern California, Los Angeles, CA 90089.
Sabatti C; Department of Statistics, Stanford University, Stanford, CA 94305.; Department of Biomedical Data Science, Stanford University, Stanford, CA 94305.
Candès E; Department of Statistics, Stanford University, Stanford, CA 94305; .; Department of Mathematics, Stanford University, Stanford, CA 94305.
Źródło:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Sep 29; Vol. 117 (39), pp. 24117-24126. Date of Electronic Publication: 2020 Sep 18.
Typ publikacji:
Comparative Study; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Język:
English
Imprint Name(s):
Original Publication: Washington, DC : National Academy of Sciences
MeSH Terms:
Genetic Association Studies*
Genetic Techniques*
Genetic Variation*
Heredity*
Phenotype*
Humans
References:
Nat Genet. 2007 Oct;39(10):1181-6. (PMID: 17898773)
Lancet. 2005 Sep 24-30;366(9491):1121-31. (PMID: 16182901)
Nat Genet. 2019 Mar;51(3):431-444. (PMID: 30804558)
Nat Genet. 2018 Jul;50(7):906-908. (PMID: 29892013)
Hum Hered. 2000 Jul-Aug;50(4):211-23. (PMID: 10782012)
Nat Genet. 2010 Apr;42(4):348-54. (PMID: 20208533)
Am J Hum Genet. 2000 Feb;66(2):576-92. (PMID: 10677318)
Hum Hered. 2016;81(2):106-116. (PMID: 28076865)
Am J Hum Genet. 2002 Sep;71(3):575-84. (PMID: 12181775)
Nature. 2014 Nov 13;515(7526):216-21. (PMID: 25363768)
Am J Hum Genet. 2017 Jul 6;101(1):5-22. (PMID: 28686856)
Nat Genet. 2005 Jul;37(7):683-91. (PMID: 15937480)
Nat Genet. 2014 Aug;46(8):881-5. (PMID: 25038753)
Nat Rev Genet. 2011 Sep 16;12(10):703-14. (PMID: 21921926)
Nat Commun. 2017 Apr 25;8:14994. (PMID: 28440270)
Am J Hum Genet. 1993 Mar;52(3):506-16. (PMID: 8447318)
Hum Mol Genet. 2012 Nov 1;21(21):4781-92. (PMID: 22843504)
Ann Hum Genet. 1987 Jul;51(3):227-33. (PMID: 3500674)
Hum Hered. 1992;42(6):337-46. (PMID: 1493912)
Hum Hered. 1997 Nov-Dec;47(6):342-50. (PMID: 9391826)
Nature. 2005 Oct 27;437(7063):1299-320. (PMID: 16255080)
Brain Res. 2011 Mar 22;1380:78-84. (PMID: 21078308)
PLoS Genet. 2014 Apr 17;10(4):e1004234. (PMID: 24743097)
Hum Hered. 2008;66(2):122-6. (PMID: 18382091)
Stat Sci. 2009 Nov;24(4):398-413. (PMID: 20711421)
Neuron. 2012 Dec 20;76(6):1052-6. (PMID: 23259942)
Am J Hum Genet. 2006 Mar;78(3):437-50. (PMID: 16465620)
Nature. 2018 Oct;562(7726):203-209. (PMID: 30305743)
Am J Hum Genet. 1995 Aug;57(2):487-98. (PMID: 7668275)
Nat Rev Genet. 2011 Jun 01;12(7):465-74. (PMID: 21629274)
Biometrics. 1999 Dec;55(4):997-1004. (PMID: 11315092)
Am J Hum Genet. 1997 Mar;60(3):676-90. (PMID: 9042929)
Nat Commun. 2020 Feb 27;11(1):1093. (PMID: 32107378)
PLoS Genet. 2008 Sep 26;4(9):e1000180. (PMID: 18818728)
Nat Genet. 2006 Aug;38(8):904-9. (PMID: 16862161)
Hum Hered. 1998 Mar-Apr;48(2):67-81. (PMID: 9526165)
Am J Hum Genet. 2000 Mar;66(3):1168-72. (PMID: 10712230)
Nucleic Acids Res. 2014 Jan;42(Database issue):D975-9. (PMID: 24297256)
Biometrika. 2019 Mar;106(1):1-18. (PMID: 30799875)
Am J Hum Genet. 1996 Nov;59(5):983-9. (PMID: 8900224)
Genome Biol. 2016 Nov 28;17(1):241. (PMID: 27894357)
Contributed Indexing:
Keywords: causal discovery; conditional independence testing; false discovery rate (FDR); family-based association test (FBAT); transmission disequilibrium test (TDT)
Entry Date(s):
Date Created: 20200919 Date Completed: 20201119 Latest Revision: 20201119
Update Code:
20240104
PubMed Central ID:
PMC7533659
DOI:
10.1073/pnas.2007743117
PMID:
32948695
Czasopismo naukowe
We introduce a method to draw causal inferences-inferences immune to all possible confounding-from genetic data that include parents and offspring. Causal conclusions are possible with these data because the natural randomness in meiosis can be viewed as a high-dimensional randomized experiment. We make this observation actionable by developing a conditional independence test that identifies regions of the genome containing distinct causal variants. The proposed digital twin test compares an observed offspring to carefully constructed synthetic offspring from the same parents to determine statistical significance, and it can leverage any black-box multivariate model and additional nontrio genetic data to increase power. Crucially, our inferences are based only on a well-established mathematical model of recombination and make no assumptions about the relationship between the genotypes and phenotypes. We compare our method to the widely used transmission disequilibrium test and demonstrate enhanced power and localization.
Competing Interests: The authors declare no competing interest.
Comment in: Proc Natl Acad Sci U S A. 2020 Oct 20;117(42):25963-25965. (PMID: 33046646)

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